Kearns-sayre syndrome

Kearns-Sayre Syndrome (KSS) is a rare, multisystemic disorder characterized by a variety of symptoms, including ptosis, retinitis pigmentosa, and cardiac conduction defects. It is a type of mitochondrial DNA deletion syndrome, which are a group of disorders caused by the deletion of mitochondrial DNA.

Etiology

KSS is caused by large-scale deletions in mitochondrial DNA. Mitochondria, the energy-producing structures within cells, have their own small DNA molecules. This DNA is essential for the normal function of the mitochondria and, by extension, the cell as a whole. In people with KSS, a significant portion of the mitochondrial DNA is deleted, leading to impaired mitochondrial function.

Symptoms and Diagnosis

The symptoms of KSS typically begin before the age of 20 and may include ptosis, retinitis pigmentosa, cardiac conduction defects, ataxia, and muscle weakness. Other symptoms may include endocrine disorders, such as diabetes mellitus and growth hormone deficiency, and neurological disorders, such as dementia and epilepsy.

Diagnosis of KSS is based on clinical findings and confirmed by genetic testing, which can identify the characteristic mitochondrial DNA deletions.

Treatment

There is currently no cure for KSS. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy. Regular monitoring of cardiac function is essential due to the risk of cardiac conduction defects.

Prognosis

The prognosis for individuals with KSS varies. Some individuals may have a relatively mild course with few complications, while others may experience severe, life-threatening complications.

See Also

• Mitochondrial DNA deletion syndromes
• Mitochondrial diseases
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Kearns-sayre syndrome

Kearns-sayre syndrome is a rare disease.

Kearns-sayre syndrome Resources
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